The movement of proteins between cellular compartments requires the orchestrated actions
of many factors including Rab family GTPases, Soluble NSF Attachment protein REceptors …

Epitranscriptomic abnormalities, which are highly prevalent in primary central nervous
system malignancies, have been identified as crucial contributors to the development and …

Intellectual disability (ID) is the hallmark of an extremely heterogeneous group of disorders
that comprises a wide variety of syndromic and non‐syndromic phenotypes. Here, we report …

Mutations of the human TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 9
(TRAPPC9) cause a neurodevelopmental disorder characterised by microcephaly and …

We report two unrelated families with multigenerational nonsyndromic intellectual disability
(ID) segregating with a recurrent de novo missense variant (c. 1543C> T: p. Leu515Phe) in …

Introduction Intellectual disability (ID) is a clinically and genetically heterogeneous disorder.
It drastically affects the learning capabilities of patients and eventually reduces their IQ level …

A homozygous nonsense mutation in the cereblon (CRBN) gene results in autosomal
recessive, nonsyndromic intellectual disability that is devoid of other phenotypic features …

Alzheimer's disease (AD) is a type of brain disorder, wherein a person experiences gradual
memory loss, state of confusion, hallucination, agitation, and personality change. AD is …

Background Intellectual disability is a form of neurodevelopmental disorders that begin in
childhood and is characterized by substantial intellectual difficulties as well as difficulties in …

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%–
3% of the general population. The number of ID-causing genes is high. Many X-linked …